SUMMARY
The international study ThromboGenomics has developed and tested a targeted high-throughput sequencing (HTS) multi-gene panel test for diagnostics of patients with rare bleeding, thrombotic or platelet disorders (BTPD). After the initial validation of this research platform, 2396 index patients were sequenced and a mean diagnostic rate of 49.2% was reached for all thrombotic, coagulation, platelet count and function disorder patients while this rate dropped to 3.2% for patients with unexplained bleeding disorders that were characterised by normal haemostasis test results. Since early 2019, a similar HTS test for BTPD has been implemented in Belgium in a clinical diagnostic setting. This test screens 96 diagnostic-grade genes and is updated yearly with novel genes. Upon inclusion, clinicians can opt for one of the three panels: 1) (anti)coagulation panel test for abnormal bleeding or thrombosis, 2) platelet disorder panel test for inherited thrombocytopenia or known platelet dysfunctions and 3) the unexplained bleeding panel test but with evidence for Ehlers-Danlos Syndrome or Rendu-Osler-Weber disease. Inclusion and exclusion criteria for patients eligible for such HTS will be discussed. The submission of detailed information about clinical phenotype, family history and laboratory test results is critical for the interpretation of the genetic results. The aim is to provide results to clinicians and patients with a detailed report that discusses variant interpretation.
(BELG J HEMATOL 2020;12(3):99-105)
